Biomarkers for pyrimidine metabolism disorders (Homo sapiens)

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UDPUTPUMPUMPSPRPPCysteineN-Carbamyl-beta-aminoisobutyric aciddihydrothymineGlutathioneOrotateCytosineCreatineUMPH1orotidineCTPAmino Acid metabolism2-DeoxyuridineBeta-alaninecytidineuracilUric acid5-OH-MethyluraciluridineCDPTPCreatine kinaseCMPDihydrouracilCreatine-PthymidineGlutathione metabolismN-Carbamoyl-beta-alanineLactate(S)-beta-aminoisobutyratePurine metabolismDPDPyrimidine metabolismthymineOMP+ PRPPUMPH2UMPHUMPH1UMPH2UMPHUPDHPTK2TSdUDPdUMPdTMPRRRRM1RRM2RRM2BOPRTOMPDCUMPS-complexRR-complexThe two possible compositionsRRM1


Description

Pyrimidine metabolism disorders are caused by enzyme defects in the metabolism of pyrimidine (WP4225). The clinical presentation of pyrimidine disorders is very diverse, because of the diversity in biological function. The severity of the disorder is determined by the severity of the defect and the function of the normal enzyme.

The diagnosis of Pyrimidine metabolism disorders is based on altered concentrations of different metabolic biochemical markers. Some of these markers are metabolites in the pyrimidine metabolism, but there are also several other markers, that are either indirectly or not related to pyrimidine metabolism. All metabolic markers used for the diagnosis of at least one Pyrimidine metabolism disorder and their relations are visualized in this pathway. Biochemical markers derived from http://www.iembase.org/, for all diseases pictured in WP4225.

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Ontology Terms

 

Bibliography

  1. Wyss M, Kaddurah-Daouk R; ''Creatine and creatinine metabolism.''; Physiol Rev, 2000 PubMed Europe PMC Scholia
  2. Qiu W, Zhou B, Darwish D, Shao J, Yen Y; ''Characterization of enzymatic properties of human ribonucleotide reductase holoenzyme reconstituted in vitro from hRRM1, hRRM2, and p53R2 subunits.''; Biochem Biophys Res Commun, 2006 PubMed Europe PMC Scholia
  3. Blau, N., Duran, M., Gibson, K.M., Donisi-Vici, C; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases Chapter 41''; ISBN:978-3-642-40337-8, 2014

History

View all...
CompareRevisionActionTimeUserComment
123407view06:48, 23 July 2022EgonwMade four pathways clickable
119306view13:09, 23 June 2021FinterlyAdded ISBN for book citation
116762view09:32, 12 May 2021DeSlUpdating ISBN nr for ref
116761view09:30, 12 May 2021DeSlChecking validity in GPML schema
104645view12:32, 7 June 2019IreneHemelAdded Dihydroorotate
104312view08:13, 16 May 2019IreneHemelChanged first letters of text in node to capitals
104273view07:06, 15 May 2019IreneHemelAdded Pseudouridine with reaction
104206view08:38, 10 May 2019IreneHemelChanged ID for Lactate
104205view08:27, 10 May 2019IreneHemelChanged ID for Cysteine
104159view10:02, 7 May 2019IreneHemelAdded information about metabolite charge to DataNode comments
104146view13:35, 6 May 2019IreneHemelAdded references
104117view10:09, 6 May 2019DeSlRemoved unnecessary references.
104112view07:16, 6 May 2019IreneHemelFixed interaction
104095view13:22, 3 May 2019IreneHemelModified description
104094view13:17, 3 May 2019IreneHemelNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
(S)-beta-aminoisobutyrateMetaboliteCHEBI:57731 (ChEBI) aka (R)-3-amino-2-methylpropanoate
+ PRPPMetaboliteCHEBI:17111 (ChEBI)
2-DeoxyuridineMetaboliteCHEBI:16450 (ChEBI)
5-OH-Methyluracil MetaboliteCHEBI:16964 (ChEBI)
Amino Acid metabolismPathwayWP3925 (WikiPathways)
Beta-alanineMetaboliteCHEBI:57966 (ChEBI)
CDPMetaboliteCHEBI:58069 (ChEBI) CDP 3-, charge needed for conversion can take place
CMPMetaboliteCHEBI:60377 (ChEBI) CMP (2-), charge needed for conversion can take place
CTPMetaboliteCHEBI:37563 (ChEBI)
Creatine kinase ProteinP12277 (Uniprot-TrEMBL)
Creatine-PMetaboliteCHEBI:58092 (ChEBI)
CreatineMetaboliteCHEBI:57947 (ChEBI)
CysteineMetaboliteCHEBI:15356 (ChEBI)
CytosineMetaboliteCHEBI:16040 (ChEBI)
DHPProteinQ14117 (Uniprot-TrEMBL)
DPDProteinQ12882 (Uniprot-TrEMBL)
DihydrouracilMetaboliteCHEBI:15901 (ChEBI)
Glutathione MetaboliteCHEBI:16856 (ChEBI)
Glutathione metabolismPathwayWP100 (WikiPathways)
LactateMetaboliteCHEBI:24996 (ChEBI)
N-Carbamoyl-beta-alanineMetaboliteCHEBI:11892 (ChEBI) aka 3-(carbamoylamino)propanoate
N-Carbamyl-beta-aminoisobutyric acidMetaboliteCHEBI:74414 (ChEBI) aka 3-(carbamoylamino)-2-methylpropanoate
OMPMetaboliteCHEBI:57538 (ChEBI) Orotidylic acid
OMPDCProtein4.1.1.23 (Enzyme Nomenclature)
OPRTProtein2.4.2.10 (Enzyme Nomenclature)
OrotateMetaboliteCHEBI:30839 (ChEBI)
PRPPMetaboliteCHEBI:17111 (ChEBI)
Purine metabolismPathwayWP4224 (WikiPathways)
Pyrimidine metabolismPathwayWP4225 (WikiPathways)
RRProtein1.17.4.1 (Enzyme Nomenclature)
RRM1ProteinP23921 (Uniprot-TrEMBL)
RRM2BProteinQ7LG56 (Uniprot-TrEMBL)
RRM2ProteinP31350 (Uniprot-TrEMBL)
TK2ProteinO00142 (Uniprot-TrEMBL)
TPProteinP19971 (Uniprot-TrEMBL)
TSProteinP04818 (Uniprot-TrEMBL)
UDPMetaboliteCHEBI:58223 (ChEBI)
UMPMetaboliteCHEBI:57865 (ChEBI)
UMPH1ProteinQ9H0P0 (Uniprot-TrEMBL)
  • aka P5N1
  • Enzymes and reactions added with info from https://www.omim.org/entry/606224
UMPH2ProteinQ8TCD5 (Uniprot-TrEMBL)
  • aka NT5C
  • Enzymes and reactions added with info from https://www.omim.org/entry/606224
UMPHProtein3.1.3.5 (Enzyme Nomenclature)
  • aka P5N
  • Enzymes and reactions added with info from https://www.omim.org/entry/606224
UMPSGeneProductP11172 (Uniprot-TrEMBL)
UPProteinQ9UBR1 (Uniprot-TrEMBL)
UTPMetaboliteCHEBI:46398 (ChEBI)
Uric acid MetaboliteCHEBI:27226 (ChEBI)
cytidineMetaboliteCHEBI:17562 (ChEBI)
dTMPMetaboliteCHEBI:63528 (ChEBI)
dUDPMetaboliteCHEBI:60471 (ChEBI)
dUMPMetaboliteCHEBI:246422 (ChEBI)
dihydrothymineMetaboliteQ3027885 (Wikidata)
orotidineMetaboliteCHEBI:25722 (ChEBI)
thymidineMetaboliteCHEBI:17748 (ChEBI)
thymineMetaboliteCHEBI:17821 (ChEBI)
uracilMetaboliteCHEBI:17568 (ChEBI)
uridineMetaboliteCHEBI:16704 (ChEBI)

Annotated Interactions

View all...
SourceTargetTypeDatabase referenceComment
2-Deoxyuridineuracilmim-conversion22825 (Rhea)
CDPCMPmim-conversion11602 (Rhea)
CMPcytidinemim-conversion24676 (Rhea)
CTPCDPmim-conversion25239 (Rhea)
CreatineCreatine-Pmim-conversion17158 (Rhea)
DihydrouracilN-Carbamoyl-beta-alaninemim-conversion16122 (Rhea)
N-Carbamoyl-beta-alanineBeta-alaninemim-conversion11185 (Rhea)
N-Carbamyl-beta-aminoisobutyric acid(S)-beta-aminoisobutyratemim-conversion37340 (Rhea)
OMPUMPmim-conversion11597 (Rhea)
OrotateOMPmim-conversion10382 (Rhea)
UDPUTPmim-conversion25099 (Rhea)
UMPUDPmim-conversion24401 (Rhea)
UMPdUDPmim-conversion28028 (Rhea)
UMPuridinemim-conversion29360 (Rhea)
UTPCTPmim-conversion30337 (Rhea)
cytidineCytosinemim-conversion27959 (Rhea)
dTMPthymidinemim-conversion19131 (Rhea)
dUMP2-Deoxyuridinemim-conversion28208 (Rhea)
dUMPdTMPmim-conversion12105 (Rhea)
dUMPdUDPmim-conversion30656 (Rhea)
dihydrothymineN-Carbamyl-beta-aminoisobutyric acidmim-conversion37336 (Rhea)
thymidinedTMPmim-conversion19130 (Rhea)
thymidinethyminemim-conversion16038 (Rhea)
thymine5-OH-Methyluracil mim-conversion10317 (Rhea)
thyminedihydrothyminemim-conversion28793 (Rhea)
uracilDihydrouracilmim-conversion20191 (Rhea)
uridineuracilmim-conversion24389 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP4584"
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